Canonical Allele Identifier: CA9138894
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1599463
ClinVar RCV Id: RCV002129806
dbSNP Id: rs563339019
ExAC: 19:7592852 GC / G
gnomAD v2: 19-7592852-GC-G
gnomAD v3: 19-7527966-GC-G
gnomAD v4: 19-7527966-GC-G
COSMIC: COSM5505950
MyVariant Identifiers: chr19:g.7592853del (hg19) chr19:g.7527967del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527972del , CM000681.2:g.7527972del GRCh38
NC_000019.9:g.7592858del , CM000681.1:g.7592858del GRCh37
NC_000019.8:g.7498858del NCBI36
NG_015806.1:g.10363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+12del MANE Select ENSP00000264079.5:n.777+12del
ENST00000264079.10:c.777+12del ENSP00000264079.5:n.777+12del
ENST00000394321.9:n.1092+12del
NM_020533.2:c.777+12del NP_065394.1:n.777+12del
NM_020533.3:c.777+12del MANE Select NP_065394.1:n.777+12del
Search 100 bp 5'
Search 100 bp 3'